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ChromosOmics - Database
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- all
CHROMOSOMES -
-
unclear if maternal or paternal UPD -
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mat or pat
UPD-cases without clinical findings + normal karyotype
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case no.
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gender
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age at diagnosis
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studied
material
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GTG-banding result
|
clinical symptoms
|
reference
|
all-
OU-N/
1-1
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- |
- |
- |
- |
- |
- |
mosaic cases
case no.
|
gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
clinical
symptoms
|
reference
|
all-
OU-N/
mos/
1-1
|
- |
- |
- |
- |
- |
- |
|
mat or pat UPD-cases without
clinical findings + balanced karyotype |
case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
|
reference
|
all-
OU-bal/
1-1
|
- |
- |
- |
- |
- |
- |
|
mat or pat UPD-cases without
clinical findings + sSMC
|
case no.
|
case no. in
sSMC database
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gender/
age at diagnosis
|
studied
material
|
GTG-banding
result
|
final FISH
result of the sSMC
|
FISH
methods
|
clinical
symptoms
|
reference
|
all-
OU-sSMC/
1-1
|
-
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-
|
-
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-
|
-
|
-
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-
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-
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|
segmental
mat or pat UPD-cases without clinical findings
|
case no.
|
gender
|
age at diagnosis
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studied
material
|
GTG-banding result
|
clinical symptoms
|
reference
|
all-
OU-seg/
/
1-1
|
-
|
-
|
-
|
- |
-
|
- |
mosaic cases
case no.
|
gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
clinical
symptoms
|
reference
|
all-
OU-seg/
/
mos/
1-1
|
-
|
-
|
-
|
- |
-
|
- |
|
mat or pat UPD-cases without clinical findings +
other imbalances |
case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
|
reference
|
all-
OU-imb/
1-1
|
- |
- |
- |
- |
- |
- |
mosaic cases
case no.
|
gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
clinical
symptoms
|
reference
|
all-
OU-imb/
mos/
1-1
|
- |
- |
- |
- |
- |
- |
|
mat
or pat UPD-cases with or unclear clinical
correlation + normal karyotype |
case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
|
reference
|
all-
WU-N/
1-1 to
1-3
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female
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prenatal
|
fibroblasts
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46,XX (acc.
to aCGH)
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abortion
|
{1042}
cases C-196; C-828; C-834
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mosaic cases
case no.
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gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
clinical
symptoms
|
reference
|
all-
WU-N/
mos/
1-1 |
-
|
-
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-
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-
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-
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-
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|
mat
or pat UPD-cases with or unclear clinical
correlation+ balanced karyotype
|
case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
|
reference
|
all-
WU-bal/
1-1 |
-
|
-
|
-
|
-
|
-
|
-
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|
mat
or pat UPD-cases with or unclear clinical findings +
sSMC
|
case no.
|
case no. in
sSMC database
|
gender/
age at diagnosis
|
studied
material
|
GTG-banding
result
|
final FISH
result of the sSMC
|
FISH
methods
|
clinical
symptoms
|
reference
|
all-
WU-sSMC/
1-1
|
- |
- |
- |
- |
- |
- |
- |
- |
|
segmental
mat or pat UPD-cases with or unclear clinical
correlation
|
case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
|
reference
|
all-
WU-seg/
/
1-1
|
- |
- |
- |
- |
- |
- |
mosaic cases
case no.
|
gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
clinical
symptoms
|
reference
|
all-
WU-seg/
/
mos/
1-1
|
- |
- |
- |
- |
- |
- |
|
mat
or pat UPD-cases with or unclear clinical
correlation + other imbalances |
case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
|
reference
|
all-
WU-imb/
1-1
|
- |
- |
- |
- |
- |
- |
mosaic cases
case no.
|
gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
clinical
symptoms
|
reference
|
all-
WU-imb/
mos/
1-1
|
- |
- |
- |
- |
- |
- |
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